A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417038



Internal ID16403559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75731521..75741050hg38UCSC Ensembl
Innerchr7:75360839..75370368hg19UCSC Ensembl
Innerchr7:75198775..75208304hg18UCSC Ensembl
Innerchr7:75005490..75015019hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389530
hg199530
hg189530
hg179530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv818517
Supporting Variants
SamplesNA06994
Known GenesHIP1
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nssv1417038
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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